Incidental Mutation 'R6389:Slc9a4'
ID 515661
Institutional Source Beutler Lab
Gene Symbol Slc9a4
Ensembl Gene ENSMUSG00000026065
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 4
Synonyms NHE4, D730009J23Rik
MMRRC Submission 044538-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6389 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 40619241-40669885 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40619844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 57 (I57V)
Ref Sequence ENSEMBL: ENSMUSP00000027233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027233]
AlphaFold Q8BUE1
Predicted Effect probably benign
Transcript: ENSMUST00000027233
AA Change: I57V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027233
Gene: ENSMUSG00000026065
AA Change: I57V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_H_Exchanger 73 477 1.6e-90 PFAM
PDB:2E30|B 481 516 9e-8 PDB
Pfam:NEXCaM_BD 566 675 8.1e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194262
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (57/57)
MGI Phenotype PHENOTYPE: Homozygous null mice display normal growth and survival but have gastric secretions with reduced acidity, mild gastric necrosis and apoptosis, and abnormal gastric mucosa with reduced numbers of parietal and chief cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,254 (GRCm39) L326R possibly damaging Het
Abcb11 A T 2: 69,154,238 (GRCm39) N109K probably damaging Het
Actn1 T A 12: 80,221,296 (GRCm39) M586L probably benign Het
Ago4 T A 4: 126,401,037 (GRCm39) I603F probably damaging Het
Bicc1 A T 10: 70,794,752 (GRCm39) V135D probably damaging Het
Bms1 T C 6: 118,380,196 (GRCm39) N704D possibly damaging Het
Cadm4 A C 7: 24,198,959 (GRCm39) Q78P probably benign Het
Cfap74 T C 4: 155,507,793 (GRCm39) I248T possibly damaging Het
Clu G C 14: 66,208,771 (GRCm39) probably benign Het
Cnnm3 T C 1: 36,559,603 (GRCm39) V514A probably damaging Het
Cntd1 A T 11: 101,176,577 (GRCm39) I225F probably damaging Het
Col20a1 T C 2: 180,634,376 (GRCm39) probably null Het
Ctnnal1 A G 4: 56,813,849 (GRCm39) V640A probably benign Het
Cul4a A G 8: 13,190,278 (GRCm39) T572A probably benign Het
D16Ertd472e A G 16: 78,342,071 (GRCm39) S270P probably damaging Het
Dmp1 A T 5: 104,360,788 (GRCm39) N488I probably damaging Het
Dnah14 G A 1: 181,478,767 (GRCm39) probably null Het
Dst T C 1: 34,232,265 (GRCm39) L3464P probably damaging Het
Fnbp4 C T 2: 90,575,879 (GRCm39) P27S unknown Het
Fpr-rs3 A T 17: 20,844,230 (GRCm39) F304I probably damaging Het
Gm13941 T C 2: 110,928,734 (GRCm39) Q108R unknown Het
Hcn3 C T 3: 89,058,240 (GRCm39) A339T possibly damaging Het
Inpp5f A G 7: 128,279,780 (GRCm39) D460G probably damaging Het
Ism2 T C 12: 87,329,145 (GRCm39) E253G possibly damaging Het
Klrg1 T C 6: 122,248,431 (GRCm39) N156S probably damaging Het
Ksr2 A G 5: 117,552,907 (GRCm39) N5S probably benign Het
Lrrc7 T G 3: 157,891,063 (GRCm39) E368A probably damaging Het
Ly9 G C 1: 171,424,105 (GRCm39) S482C probably damaging Het
Map3k1 T C 13: 111,905,975 (GRCm39) D289G probably damaging Het
Mcub T C 3: 129,712,357 (GRCm39) T173A probably benign Het
Mup16 T C 4: 61,437,177 (GRCm39) E48G probably damaging Het
Naf1 C T 8: 67,313,680 (GRCm39) S24L possibly damaging Het
Ncoa6 A G 2: 155,237,736 (GRCm39) S2024P probably damaging Het
Nop56 C A 2: 130,119,807 (GRCm39) Q83K probably damaging Het
Nt5e T C 9: 88,245,524 (GRCm39) Y265H probably damaging Het
Odad1 G T 7: 45,597,940 (GRCm39) V617F probably benign Het
Or4a27 A G 2: 88,559,016 (GRCm39) V309A probably benign Het
Or52p2 A T 7: 102,237,679 (GRCm39) N90K probably benign Het
Or5w8 C T 2: 87,688,367 (GRCm39) P283S probably damaging Het
Oxct2a T A 4: 123,217,220 (GRCm39) K54* probably null Het
Oxct2b G T 4: 123,010,367 (GRCm39) D96Y probably benign Het
Pisd A G 5: 32,922,191 (GRCm39) Y250H probably damaging Het
Plekhm1 G T 11: 103,257,720 (GRCm39) N1071K probably benign Het
Prr11 G A 11: 86,989,564 (GRCm39) T269I possibly damaging Het
Ptpn4 T A 1: 119,649,684 (GRCm39) H304L probably damaging Het
Rrp1b A G 17: 32,275,601 (GRCm39) K383E possibly damaging Het
Sel1l2 C A 2: 140,087,274 (GRCm39) A466S probably damaging Het
Spag9 A G 11: 93,977,137 (GRCm39) E81G probably damaging Het
Tbr1 A G 2: 61,636,631 (GRCm39) probably benign Het
Tnrc6c A G 11: 117,613,567 (GRCm39) D735G probably damaging Het
Tspan17 A T 13: 54,943,429 (GRCm39) probably null Het
Tyw5 T C 1: 57,430,658 (GRCm39) K175R probably damaging Het
Ube2o A C 11: 116,439,684 (GRCm39) I162R probably null Het
Ubr1 G T 2: 120,711,520 (GRCm39) T1458K probably benign Het
Vmn2r16 A T 5: 109,478,344 (GRCm39) Q33L probably benign Het
Zfp1007 G A 5: 109,823,885 (GRCm39) P522S possibly damaging Het
Zfp799 A G 17: 33,039,552 (GRCm39) L238P probably damaging Het
Other mutations in Slc9a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Slc9a4 APN 1 40,668,565 (GRCm39) missense probably benign 0.01
IGL01802:Slc9a4 APN 1 40,646,958 (GRCm39) missense probably damaging 1.00
IGL01909:Slc9a4 APN 1 40,651,451 (GRCm39) splice site probably benign
IGL02137:Slc9a4 APN 1 40,640,059 (GRCm39) missense possibly damaging 0.79
IGL02399:Slc9a4 APN 1 40,639,942 (GRCm39) missense probably benign 0.00
IGL02685:Slc9a4 APN 1 40,668,742 (GRCm39) missense probably benign
IGL02874:Slc9a4 APN 1 40,623,198 (GRCm39) missense probably benign 0.02
IGL02892:Slc9a4 APN 1 40,623,204 (GRCm39) missense possibly damaging 0.64
IGL03028:Slc9a4 APN 1 40,649,537 (GRCm39) missense probably benign 0.06
IGL03083:Slc9a4 APN 1 40,668,562 (GRCm39) missense probably benign 0.00
IGL03124:Slc9a4 APN 1 40,619,895 (GRCm39) missense probably damaging 0.99
IGL03144:Slc9a4 APN 1 40,651,362 (GRCm39) missense probably damaging 1.00
IGL03286:Slc9a4 APN 1 40,619,928 (GRCm39) missense probably null 0.99
R0601:Slc9a4 UTSW 1 40,642,230 (GRCm39) missense probably damaging 1.00
R1118:Slc9a4 UTSW 1 40,623,490 (GRCm39) splice site probably benign
R1583:Slc9a4 UTSW 1 40,640,122 (GRCm39) missense probably benign 0.01
R1752:Slc9a4 UTSW 1 40,668,421 (GRCm39) missense probably benign 0.00
R1776:Slc9a4 UTSW 1 40,668,447 (GRCm39) missense probably benign 0.00
R1785:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R1786:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R2131:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R2132:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R2133:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R3785:Slc9a4 UTSW 1 40,623,130 (GRCm39) missense probably damaging 1.00
R4223:Slc9a4 UTSW 1 40,658,286 (GRCm39) missense probably damaging 0.98
R4567:Slc9a4 UTSW 1 40,619,737 (GRCm39) missense probably damaging 0.99
R4605:Slc9a4 UTSW 1 40,640,195 (GRCm39) splice site probably null
R4641:Slc9a4 UTSW 1 40,646,285 (GRCm39) missense probably damaging 1.00
R5407:Slc9a4 UTSW 1 40,646,954 (GRCm39) missense probably benign 0.41
R5823:Slc9a4 UTSW 1 40,658,277 (GRCm39) missense probably damaging 0.97
R5877:Slc9a4 UTSW 1 40,651,423 (GRCm39) missense probably benign
R6430:Slc9a4 UTSW 1 40,640,014 (GRCm39) nonsense probably null
R6603:Slc9a4 UTSW 1 40,662,664 (GRCm39) missense probably benign 0.43
R6950:Slc9a4 UTSW 1 40,642,045 (GRCm39) missense probably damaging 1.00
R7102:Slc9a4 UTSW 1 40,662,559 (GRCm39) missense probably damaging 1.00
R7102:Slc9a4 UTSW 1 40,619,799 (GRCm39) missense probably benign 0.00
R7230:Slc9a4 UTSW 1 40,639,931 (GRCm39) missense probably damaging 1.00
R7313:Slc9a4 UTSW 1 40,668,663 (GRCm39) missense probably benign 0.28
R7384:Slc9a4 UTSW 1 40,651,411 (GRCm39) missense probably benign 0.10
R7405:Slc9a4 UTSW 1 40,640,086 (GRCm39) missense probably damaging 1.00
R7770:Slc9a4 UTSW 1 40,640,123 (GRCm39) missense probably damaging 0.98
R7784:Slc9a4 UTSW 1 40,639,936 (GRCm39) missense probably damaging 1.00
R8313:Slc9a4 UTSW 1 40,619,520 (GRCm39) start gained probably benign
R8724:Slc9a4 UTSW 1 40,623,301 (GRCm39) missense probably damaging 0.98
R8871:Slc9a4 UTSW 1 40,642,015 (GRCm39) missense probably damaging 1.00
R8926:Slc9a4 UTSW 1 40,619,928 (GRCm39) missense possibly damaging 0.71
R9244:Slc9a4 UTSW 1 40,658,249 (GRCm39) missense probably damaging 0.99
R9455:Slc9a4 UTSW 1 40,668,612 (GRCm39) missense probably benign 0.05
X0060:Slc9a4 UTSW 1 40,658,191 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TGGCATACATCAGGACCCAG -3'
(R):5'- GCGCACTACAAGTAGCAGTTAC -3'

Sequencing Primer
(F):5'- ATACATCAGGACCCAGGTGCG -3'
(R):5'- CACTACAAGTAGCAGTTACTGTCTAC -3'
Posted On 2018-05-04